Reaching new heights: insights into the genetics of human stature.
Human height is a highly heritable, classic polygenic trait. Until recently, there had been limited success in identifying the specific genetic variants that explain normal variation of human height. The advent of large-scale genome-wide association studies, however, has led to dramatic progress. In the past 18 months, the first robust common variant associations were identified and there are now 44 loci known to influence normal variation of height. In this review, we summarize this exciting recent progress, discuss implicated biological pathways, the overlap with monogenic growth and skeletal dysplasia syndromes, links to disease and insights into the genetic architecture of this model polygenic trait. We also discuss the strong probability of finding several hundred more such loci in the near future.
Weedon
Michael N
MN
Genetics of Complex Traits, Institute of Biomedical and Clinical Science, Peninsula College of Medicine and Dentistry, Magdalen Road, Exeter, EX1 2LU, UK. Michael.Weedon@pms.ac.uk
Frayling
Timothy M
TM
D001827:Body Height / Q000235:genetics*; D004194:Disease / Q000235:genetics; D055106:Genome-Wide Association Study; D048788:Growth and Development / Q000235:genetics; D006801:Humans; D009154:Mutation / Q000235:genetics; D019655:Quantitative Trait, Heritable